Aliases for PI3 Gene
Aliases for PI3 Gene
External Ids for PI3 Gene
- HGNC: 8947
- Entrez Gene: 5266
- Ensembl: ENSG00000124102
- OMIM: 182257
- UniProtKB: P19957
Previous GeneCards Identifiers for PI3 Gene
- GC20P043531
- GC20P044441
- GC20P044489
- GC20P044490
- GC20P043236
- GC20P043803
- GC20P040545
Summaries for PI3 Gene
-
This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]
GeneCards Summary for PI3 Gene
PI3 (Peptidase Inhibitor 3) is a Protein Coding gene. Diseases associated with PI3 include Erysipelas and Impetigo Herpetiformis. Among its related pathways are Defensins and Keratinization. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity.
UniProtKB/Swiss-Prot for PI3 Gene
-
Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.
Additional gene information for PI3 Gene
- Monarch Initiative
- Search for PI3 at DataMed
- Search for PI3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PI3 Gene
Genomics for PI3 Gene
GeneHancer (GH) Regulatory Elements for PI3 Gene
Promoters and enhancers for PI3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PI3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PI3 gene promoter:
-
- GR-beta
- GR-alpha
- GR
- C/EBPbeta
- p53
- NF-kappaB1
- NF-kappaB
Regulatory Element Products
Genomic Locations for PI3 Gene
Genomic Locations for PI3 Gene
- chr20:45,174,876-45,176,544
- (GRCh38/hg38)
- Size:
- 1,669 bases
- Orientation:
- Plus strand
- chr20:43,803,517-43,805,185
- (GRCh37/hg19)
- Size:
- 1,669 bases
- Orientation:
- Plus strand
Genomic View for PI3 Gene
Genes around PI3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.12 by Entrez Gene
- 20q13.12 by HGNC
- 20q13.12 by Ensembl
PI3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PI3 Gene
Proteins for PI3 Gene
-
Protein details for PI3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P19957-ELAF_HUMAN
- Recommended name:
- Elafin
- Protein Accession:
- P19957
- E1P618
- Q6FG74
Protein attributes for PI3 Gene
- Size:
- 117 amino acids
- Molecular mass:
- 12270 Da
- Quaternary structure:
- No Data Available
Protein Expression for PI3 Gene
Post-translational modifications for PI3 Gene
Other Protein References for PI3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PI3 (Trappin-2/Elafin)
-
Custom Antibody ServicesOriGene Antibodies for PI3
- Novus Biologicals Antibodies for PI3
-
Abcam antibodies for PI3
- Invitrogen Antibodies for PI3 (AFLGC-PI3)
- GeneTex PI3 Antibody for PI3
-
Santa Cruz Biotechnology (SCBT) Antibodies for PI3
- Sino Biological Antibodies for PI3
Protein Products
- R&D Systems Proteins and Enzymes for PI3 (Trappin-2/Elafin)
-
OriGene Purified Proteins for PI3
- Search Origene for MassSpec and Protein Over-expression Lysates for PI3
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- Sino Biological Recombinant Proteins for PI3
- Sino Biological Cell Lysates for PI3
- ProSpec Recombinant Proteins for PI3
- Search GeneTex for Proteins for PI3
-
ProSci Proteins for PI3
-
Abcam proteins for PI3
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for PI3
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PI3 (Trappin-2/Elafin)
- Novus Biologicals ELISA Kits for PI3
No data available for DME Specific Peptides for PI3 Gene
Domains & Families for PI3 Gene
Gene Families for PI3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted secreted proteins
Protein Domains for PI3 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PI3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P19957UniProtKB/Swiss-Prot:
ELAF_HUMAN :- Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
- Domain:
-
- Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
Function for PI3 Gene
Molecular function for PI3 Gene
- UniProtKB/Swiss-Prot Function:
- Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.
- GENATLAS Biochemistry:
- elafin,serine proteinase inhibitor,epidermal,member of the troppin family,induced in epidermis by cellular stress,involved in the regulation of inflammation and in protection against tissue damage,regulated by neutrophil elastase in type II alveolar epithelial cells
Phenotypes From GWAS Catalog for PI3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004866 | endopeptidase inhibitor activity | TAS | 2394696 |
| GO:0004867 | serine-type endopeptidase inhibitor activity | IEA,TAS | -- |
| GO:0030280 | structural constituent of epidermis | IDA | 7543090 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for PI3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for PI3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PI3
- genomics-online: gRNA clones - Search results for available PI3 gene related products
- Applied Biological Materials CRISPR for PI3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PI3
- GenScript: Design CRISPR guide RNA sequences for PI3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PI3
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PI3
- genomics-online: shRNA clones - Search results for available PI3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PI3
- Addgene plasmids for PI3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PI3
- genomics-online: cdna clones - Search results for available PI3 gene related products
- orf clones - Search results for available PI3 gene related products
- Applied Biological Materials Clones for PI3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PI3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PI3 Gene
Localization for PI3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PI3 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytosol | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| lysosome | 2 |
| endosome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001533 | cornified envelope | TAS | -- |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | -- |
Pathways & Interactions for PI3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratinization |
.33
|
|
| 2 | Innate Immune System |
.61
|
|
| 3 | Defensins | ||
| 4 | Developmental Biology | ||
Pathways by source for PI3 Gene
6 Reactome pathways for PI3 Gene
Interacting Proteins for PI3 Gene
GPS-Prot Interaction Network for PI3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007620 | copulation | IEA | -- |
| GO:0010466 | negative regulation of peptidase activity | IEA | -- |
| GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
| GO:0018149 | peptide cross-linking | IDA | 7543090 |
| GO:0019730 | antimicrobial humoral response | TAS | -- |
No data available for SIGNOR curated interactions for PI3 Gene
Transcripts for PI3 Gene
mRNA/cDNA for PI3 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (132) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000243924 577 bps (uc002xng.4)
Unigene Clusters for PI3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PI3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PI3
- genomics-online: gRNA clones - Search results for available PI3 gene related products
- Applied Biological Materials CRISPR for PI3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PI3
- GenScript: Design CRISPR guide RNA sequences for PI3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PI3
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PI3
- genomics-online: shRNA clones - Search results for available PI3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PI3
- Addgene plasmids for PI3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PI3
- genomics-online: cdna clones - Search results for available PI3 gene related products
- orf clones - Search results for available PI3 gene related products
- Applied Biological Materials Clones for PI3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PI3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Epidermis (Integumentary System)
- Hair
-
Colon (Gastrointestinal Tract)
-
Gall Bladder (Hepatobiliary System)
-
Tonsil (Hematopoietic System)
-
Esophagus (Gastrointestinal Tract)
-
Larynx (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for PI3 Gene
This gene is overexpressed in Esophagus - Mucosa (x22.7), Vagina (x12.3), and Whole Blood (x7.6).
This gene is overexpressed in Cervix (33.8) and Oral epithelium (20.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PI3 Gene
NURSA nuclear receptor signaling pathways regulating expression of PI3 Gene:
PI3SOURCE GeneReport for Unigene cluster for PI3 Gene:
Hs.112341Evidence on tissue expression from TISSUES for PI3 Gene
- Skin(4.6)
- Nervous system(4.3)
- Intestine(3.1)
- Blood(2.6)
- Lung(2.6)
Primer Products
-
OriGene qPCR primer pairs for PI3
-
OriGene qPCR primer pairs and template standards for PI3
- genomics-online: primer clones - Search results for available PI3 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PI3 Gene
Orthologs for PI3 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PI3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PI3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| PI3 34 |
|
OneToMany |
- Species where no ortholog for PI3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- mouse (Mus musculus)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for PI3 Gene
- ENSEMBL:
- Gene Tree for PI3 (if available)
- TreeFam:
- Gene Tree for PI3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PI3: view image
Paralogs for PI3 Gene
No data available for Paralogs for PI3 Gene
Variants for PI3 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs761507163 | uncertain-significance, not specified | 45,174,923(+) | A/G | initiator_codon_variant, missense_variant | |
| rs1000422977 | -- | 45,172,932(+) | G/A | upstream_transcript_variant | |
| rs1000706722 | -- | 45,173,660(+) | C/G | upstream_transcript_variant | |
| rs1000843291 | -- | 45,176,889(+) | G/A | downstream_transcript_variant | |
| rs1000880259 | -- | 45,173,304(+) | T/C | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1056102 | CNV | loss | 25217958 |
Residual Variation Intolerance Score:
76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.03;
60.50% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PI3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PI3 Gene
Disorders for PI3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erysipelas |
|
|
| impetigo herpetiformis |
|
|
| farmer's lung |
|
|
| pustular psoriasis |
|
|
| impetigo |
|
|
Search PI3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PI3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PI3 Gene
Publications for PI3 Gene
- Genetic polymorphisms of peptidase inhibitor 3 (elafin) are associated with acute respiratory distress syndrome. (PMID: 19251943) Tejera P … Christiani DC (American journal of respiratory cell and molecular biology 2009) 3 22 44 58
- SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis. (PMID: 9727750) Kuijpers AL … Schalkwijk J (Clinical genetics 1998) 3 22 44 58
- Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12-->q13. (PMID: 8287685) Molhuizen HO … Schalkwijk J (Cytogenetics and cell genetics 1994) 2 3 22 58
- SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking. (PMID: 7685029) Molhuizen HO … Schalkwijk J (The Journal of biological chemistry 1993) 3 4 22 58
- Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions. (PMID: 8476637) Sallenave JM … Silva A (American journal of respiratory cell and molecular biology 1993) 3 4 22 58
Products for PI3 Gene
- R&D Systems Antibodies for PI3 (Trappin-2/Elafin)
- R&D Systems Proteins and Enzymes for PI3 (Trappin-2/Elafin)
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PI3 (Trappin-2/Elafin)
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- Custom Antibody ServicesOriGene Antibodies for PI3
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- antibodies-online: Search results for 64 available PI3 Antibodies ranked by validation data
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- antibodies-online: Search results for 33 available PI3 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 13 available PI3 Proteins ranked by validation data
- Compare Top PI3 Proteins
- GeneTex PI3 Antibody for PI3
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- Custom Antibody Services
- ProSci Proteins for PI3
- Horizon Cell Lines for PI3
- genomics-online: cdna clones - Search results for available PI3 gene related products
- orf clones - Search results for available PI3 gene related products
- genomics-online: gRNA clones - Search results for available PI3 gene related products
- genomics-online: primer clones - Search results for available PI3 gene related products
- genomics-online: shRNA clones - Search results for available PI3 gene related products
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Sources for PI3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
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